Canonical Allele Identifier: CA6572808

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 806890
• ClinVar RCV Id: RCV000994925 ; RCV002427444
• dbSNP Id: rs761650726
• ExAC: 12:52306903 C / T
• gnomAD v2: 12-52306903-C-T
• gnomAD v3: 12-51913119-C-T
• gnomAD v4: 12-51913119-C-T
• MyVariant Identifiers: chr12:g.52306903C>T (hg19) ; chr12:g.51913119C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913119C>T , CM000674.2:g.51913119C>T	GRCh38
NC_000012.11:g.52306903C>T , CM000674.1:g.52306903C>T	GRCh37
NC_000012.10:g.50593170C>T	NCBI36
NG_009549.1:g.10702C>T , LRG_543:g.10702C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.124C>T	ENSP00000446724.2:p.Arg42Trp
ENST00000551576.6:c.82C>T	ENSP00000455848.2:p.Arg28Trp
ENST00000552678.2:c.82C>T	ENSP00000457394.2:p.Arg28Trp
ENST00000388922.9:c.82C>T MANE Select	ENSP00000373574.4:p.Arg28Trp
ENST00000388922.8:c.82C>T	ENSP00000373574.4:p.Arg28Trp
ENST00000419526.6:c.103+584C>T	ENSP00000392492.2:n.103+584C>T
ENST00000547400.5:c.124C>T	ENSP00000446724.1:p.Arg42Trp
ENST00000550683.5:c.124C>T	ENSP00000447884.1:p.Arg42Trp
ENST00000551576.5:c.82C>T	ENSP00000455848.1:p.Arg28Trp
NM_000020.2:c.82C>T , LRG_543t1:c.82C>T	NP_000011.2:p.Arg28Trp
NM_001077401.1:c.82C>T	NP_001070869.1:p.Arg28Trp
XM_005269235.2:c.82C>T	XP_005269292.1:p.Arg28Trp
XM_011539008.1:c.124C>T	XP_011537310.1:p.Arg42Trp
NM_000020.3:c.82C>T MANE Select	NP_000011.2:p.Arg28Trp
NM_001077401.2:c.82C>T	NP_001070869.1:p.Arg28Trp